Screening for Founder Mutations Through AncestryDNA

AncestryDNA data may assist in ruling out mutations

If you need genetic testing specifically for either the Common Hispanic founder mutation or the CCM2 Exon 2-10 Deletion because you are in a high-risk family line, it may be possible to rule out the mutation through Ancestry DNA. While Ancestry DNA will not directly tell you whether you have the Common Hispanic genetic mutation or the CCM2 Exon 2-10 Deletion, their most recent tests provide raw data that the Alliance to Cure can use to determine whether you should have further clinical testing. AncestryDNA is not helpful for those at risk for the CCM2 Ashkenazi Mutation.

Alliance to Cure Cavernous Malformation receives no compensation from Ancestry, Ancestry DNA, or Ancestry Health. We are providing this information entirely as a resource. We claim no responsibility for the quality or outcome of Ancestry DNA testing or their use of your DNA data.

ancestry testing

To be useful, you will need AncestryDNA results from 2017 or later.  You will need to redo the test if you tested through AncestryDNA before this.

If you have not tested or need to retest, you can order a DNA kit through the website. Ancestry frequently runs sales of up to 40% off around holidays like St. Patrick’s Day, Mother’s Day, and Thanksgiving. Ancestry DNA will send you a saliva collection kit in the mail. Follow their instructions and return the kit to them. You will be notified by email when has your results ready.

Downloading your data

Once your results are in,  please contact Connie Lee at She will send you two documents. One will offer information about our process including how we protect your privacy. The other will provide instructions for downloading your raw DNA data and sending it to us.

Once we have your raw DNA data file, we will analyze the data to determine whether you can be ruled out for the two founder mutations.  If you are ruled out, you do not need clinical diagnostic testing. You can be assured that you will not pass a CCM mutation to your children.

If the mutation is not ruled out, What Next?

If your raw DNA data can not rule out the Common Hispanic Mutation or the CCM2 Exon 2-10 Deletion,  the Alliance to Cure Cavernous Malformation will offer you clinical diagnostic genetic testing. This requires completing forms, including having a form signed by your doctor.  Please visit our Free Genetic Testing Program page for more information.


Updated 2023.1.17

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